ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.9926-12C>T

gnomAD frequency: 0.00001  dbSNP: rs762744969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601365 SCV000721693 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063983 SCV002462614 likely benign Chédiak-Higashi syndrome 2023-10-28 criteria provided, single submitter clinical testing

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