ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1074-127A>T

gnomAD frequency: 0.12778  dbSNP: rs2303450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001526774 SCV001737376 benign Tay-Sachs disease 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001692436 SCV001913598 benign not provided 2019-04-21 criteria provided, single submitter clinical testing

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