ClinVar Miner

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

dbSNP: rs556263764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639498 SCV000761073 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-02-21 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

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