ClinVar Miner

Submissions for variant NM_000520.5(HEXA):c.-167G>A

gnomAD frequency: 0.01456  dbSNP: rs77707876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265963 SCV000393846 uncertain significance Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000265963 SCV000792507 likely benign Tay-Sachs disease 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001567832 SCV001791594 likely benign not provided 2019-01-20 criteria provided, single submitter clinical testing

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