ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala)

gnomAD frequency: 0.00350  dbSNP: rs35413645
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254372 SCV000301972 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000629231 SCV000750150 benign Chédiak-Higashi syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001574519 SCV001801354 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262865 SCV002543640 likely benign Autoinflammatory syndrome 2022-04-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001574519 SCV005264401 likely benign not provided criteria provided, single submitter not provided

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