ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.783C>T (p.Gly261=)

gnomAD frequency: 0.00034  dbSNP: rs141574405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873246 SCV001015202 likely benign Nemaline myopathy 9 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001568421 SCV001792283 likely benign not provided 2019-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001568421 SCV004147298 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KLHL41: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001568421 SCV005258780 likely benign not provided criteria provided, single submitter not provided

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