ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.493-12G>T

dbSNP: rs199514129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002184125 SCV002484228 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500411 SCV002811817 likely benign Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-01-25 criteria provided, single submitter clinical testing

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