ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1817del (p.Pro606fs)

dbSNP: rs1554935746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671780 SCV000796799 likely pathogenic Niemann-Pick disease, type A 2018-01-08 criteria provided, single submitter clinical testing
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000671780 SCV001738447 pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research

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