ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.938G>A (p.Gly313Asp)

gnomAD frequency: 0.00021  dbSNP: rs1450496925
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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 RCV001438431 SCV001641303 likely benign not provided 2024-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023166 SCV005661974 uncertain significance Hermansky-Pudlak syndrome 1 2024-05-04 criteria provided, single submitter clinical testing

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