ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.302-11C>T

gnomAD frequency: 0.00038  dbSNP: rs373181445
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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 RCV002131467 SCV002457482 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494437 SCV002798093 likely benign Coffin-Siris syndrome 7 2022-03-02 criteria provided, single submitter clinical testing

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