ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3234A>G (p.Ser1078=)

dbSNP: rs556263764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000639498 SCV000761073 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2025-01-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257885 SCV002531536 likely benign Hereditary cancer-predisposing syndrome 2021-03-01 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002492996 SCV002802880 likely benign Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2021-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025582 SCV005035285 likely benign Nephrolithiasis/nephrocalcinosis 2023-10-31 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.

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