ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1497G>A (p.Val499=)

gnomAD frequency: 0.00006  dbSNP: rs749498245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674767 SCV000800160 likely benign Niemann-Pick disease, type A 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478199 SCV001682464 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-10-13 criteria provided, single submitter clinical testing

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