ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)

gnomAD frequency: 0.08688  dbSNP: rs1042636
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179296 SCV000231522 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000179296 SCV000306964 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394192 SCV000440143 benign Familial hypoparathyroidism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000312165 SCV000440144 benign Neonatal severe primary hyperparathyroidism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000987314 SCV000440145 benign Familial hypocalciuric hypercalcemia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000276967 SCV000440146 benign Autosomal dominant hypocalcemia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000179296 SCV000512485 benign not specified 2015-07-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000179296 SCV000612668 benign not specified 2012-07-10 criteria provided, single submitter clinical testing
Mendelics RCV000987314 SCV001136579 benign Familial hypocalciuric hypercalcemia 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336440 SCV001178818 benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2018-09-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001514193 SCV001721977 benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-02-01 criteria provided, single submitter clinical testing

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