ClinVar Miner

Submissions for variant GRCh37/hg19 15q23(chr15:72662932-72670877)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Women's Health, Inc. RCV001030746 SCV001193816 pathogenic Tay-Sachs disease 2019-12-04 criteria provided, single submitter clinical testing 7.6kb del NM_000520.4(HEXA):c.-2564_253+5128delinsG is classified as pathogenic in the context of hexosaminidase A deficiency. Sources cited for classification include the following: PMID 3754980 and 2824459. Classification of 7.6kb del NM_000520.4(HEXA):c.-2564_253+5128delinsG is based on the following criteria: The variant is a large genomic, multi-exon, or single-exon deletion. This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.

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