ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1164C>T (p.Ser388=)

gnomAD frequency: 0.00004  dbSNP: rs747305546
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916847 SCV001062101 likely benign not provided 2023-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502776 SCV002812964 likely benign Hermansky-Pudlak syndrome 1 2022-02-03 criteria provided, single submitter clinical testing

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