ClinVar Miner

Submissions for variant NM_018897.3(DNAH7):c.4005T>C (p.Thr1335=)

gnomAD frequency: 0.01211  dbSNP: rs149643286
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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 RCV000974345 SCV001122166 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974345 SCV005244428 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928584 SCV004744835 likely benign DNAH7-related disorder 2020-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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