ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.-253C>T

gnomAD frequency: 0.81120  dbSNP: rs3747134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282737 SCV000437679 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001643040 SCV001855565 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643040 SCV005273830 benign not provided criteria provided, single submitter not provided

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