ClinVar Miner

Submissions for variant NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr)

gnomAD frequency: 0.00214  dbSNP: rs200391124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967051 SCV001114421 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489390 SCV002801128 likely benign Williams syndrome 2022-01-13 criteria provided, single submitter clinical testing

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