ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.355+10A>G

gnomAD frequency: 0.00006  dbSNP: rs368923800
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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 RCV002083395 SCV002371817 likely benign not provided 2024-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498278 SCV002807625 likely benign Hermansky-Pudlak syndrome 7 2021-09-15 criteria provided, single submitter clinical testing

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