ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)

dbSNP: rs1554935600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666041 SCV000790274 likely pathogenic Niemann-Pick disease, type A 2017-03-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666041 SCV005052852 likely pathogenic Niemann-Pick disease, type A 2024-01-11 criteria provided, single submitter clinical testing

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