ClinVar Miner

Submissions for variant NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)

gnomAD frequency: 0.00251  dbSNP: rs148328402
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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 RCV000226631 SCV000290167 benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500801 SCV002813617 likely benign Primary ciliary dyskinesia 22 2021-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430792 SCV004148024 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ZMYND10: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003430792 SCV005300180 benign not provided criteria provided, single submitter not provided

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