ClinVar Miner

Submissions for variant NM_014806.5(RUSC2):c.2416G>A (p.Glu806Lys)

gnomAD frequency: 0.00549  dbSNP: rs41277053
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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 RCV000950425 SCV001096732 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950425 SCV004157715 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RUSC2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000950425 SCV005272632 benign not provided criteria provided, single submitter not provided

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