ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.111C>T (p.Pro37=)

gnomAD frequency: 0.00002  dbSNP: rs767672950
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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 RCV002207161 SCV002365976 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486831 SCV002800562 likely benign Poikiloderma with neutropenia 2022-01-17 criteria provided, single submitter clinical testing

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