ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1331-7C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003503133 SCV004320311 likely benign Tay-Sachs disease 2023-09-03 criteria provided, single submitter clinical testing
GeneDx RCV004765902 SCV005380096 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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