ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1341-10_1429dup (rs1554935254)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000416311 SCV001738451 likely pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research
Manipal Health Enterprises Pvt Ltd, Manipal Hospital RCV000416311 SCV000494067 likely pathogenic Niemann-Pick disease, type A no assertion criteria provided clinical testing Identified in the heterozygous state in both parents of two affected children who died of Niemann Pick Disease. Clinical details and bone marrow biopsy of one child was indicative of NPD, but no genetic analysis was performed. SMPD1 gene sequencing of the parents was negative, but the heterozygous duplication of Exon 5 in SMPD1 was identified by MLPA.

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