ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.118-54A>T

gnomAD frequency: 0.33514  dbSNP: rs2296430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538002 SCV001754979 benign Hermansky-Pudlak syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001658260 SCV001872091 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658260 SCV005320643 benign not provided criteria provided, single submitter not provided

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