ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.748G>A (p.Glu250Lys) (rs62269092)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177056 SCV000228873 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV001081445 SCV000284800 benign Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331288 SCV000440067 likely benign Hypocalcemia, autosomal dominant 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000987311 SCV000440068 likely benign Hypocalciuric hypercalcemia, familial, type 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000295987 SCV000440069 likely benign Neonatal severe 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000325278 SCV000440070 likely benign Familial isolated 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000177056 SCV000512483 likely benign not specified 2018-02-13 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513760 SCV000610066 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing
Mendelics RCV000987311 SCV001136575 benign Hypocalciuric hypercalcemia, familial, type 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513760 SCV001154028 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026493 SCV001188886 likely benign Inborn genetic diseases 2018-11-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification

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