ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1626A>C (p.Arg542=)

gnomAD frequency: 0.00023  dbSNP: rs774163596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517207 SCV001725657 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921131 SCV004730378 likely benign SMPD1-related disorder 2021-05-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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