Submissions for variant NM_000388.4(CASR):c.60C>T (p.Tyr20=)

gnomAD frequency: 0.00004  dbSNP: rs201564143

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000315565	SCV000338233	uncertain significance	not provided	2016-01-08	criteria provided, single submitter	clinical testing
Invitae	RCV001087642	SCV000638077	likely benign	Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1	2023-11-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000315565	SCV001143443	benign	not provided	2018-10-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147691	SCV001308532	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001147692	SCV001308533	likely 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). 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 Laboratory Services, Illumina	RCV001147693	SCV001308534	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001147694	SCV001308535	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV004021177	SCV002661050	likely benign	Nephrolithiasis/nephrocalcinosis	2019-02-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV004554760	SCV004783711	likely benign	CASR-related disorder	2022-01-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).