ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.570+57G>A

gnomAD frequency: 0.04919  dbSNP: rs12440768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001526775 SCV001737378 benign Tay-Sachs disease 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001597291 SCV001831264 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597291 SCV005295369 benign not provided criteria provided, single submitter not provided

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