ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.*589T>G

gnomAD frequency: 0.73205  dbSNP: rs11629508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301101 SCV000393821 benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715918 SCV005295352 benign not provided criteria provided, single submitter not provided

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