ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)

gnomAD frequency: 0.00001  dbSNP: rs367543105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000084670 SCV002351677 likely benign not provided 2023-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498445 SCV002806082 likely benign Hermansky-Pudlak syndrome 7 2022-05-02 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084670 SCV000116806 not provided not provided no assertion provided not provided

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