ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)

dbSNP: rs2134012543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001527439 SCV001738446 pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research

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