ClinVar Miner

Submissions for variant NM_001370.2(DNAH6):c.7292+6G>A

gnomAD frequency: 0.00617  dbSNP: rs193043554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893204 SCV001037122 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893204 SCV004155105 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing DNAH6: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000893204 SCV005243166 benign not provided criteria provided, single submitter not provided

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