ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)

gnomAD frequency: 0.00096  dbSNP: rs8176349
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913922 SCV001059081 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495513 SCV002802638 likely benign Vitamin D-dependent rickets, type 1A 2021-08-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002495513 SCV004564476 likely benign Vitamin D-dependent rickets, type 1A 2023-03-18 criteria provided, single submitter clinical testing

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