ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.6272A>G (p.Asn2091Ser)

gnomAD frequency: 0.00004  dbSNP: rs781858310
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000935857 SCV001081611 benign not provided 2022-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000935857 SCV001802613 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing

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