ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.172C>T (p.Leu58=)

gnomAD frequency: 0.00001  dbSNP: rs761949738
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106861 SCV002326801 likely benign not provided 2022-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479843 SCV002801272 likely benign Hypercalcemia, infantile, 1 2021-08-19 criteria provided, single submitter clinical testing

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