ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met) (rs72657369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150446 SCV000197632 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing p.Val2924Met in exon 53 of DNAH11: This variant is not expected to have clinica l significance because the valine (Val) residue at this position is not well con served across evolutionarily distant species, and the variant residue (Met) has been identified in five mammalian species (gorilla, Rhesus macaque, crab-eating macaque, baboon and green monkey). It has been identified in 32/126528 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst; dbSNP rs72657369).
Invitae RCV001504072 SCV001708935 likely benign Primary ciliary dyskinesia 2020-09-19 criteria provided, single submitter clinical testing

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