ClinVar Miner

Submissions for variant NM_032951.3(MLXIPL):c.573+7G>A

gnomAD frequency: 0.00354  dbSNP: rs200438567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950159 SCV001096445 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950159 SCV005093708 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing MLXIPL: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000950159 SCV005272303 benign not provided criteria provided, single submitter not provided

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