ClinVar Miner

Submissions for variant NM_024101.7(MLPH):c.333-21A>G

gnomAD frequency: 0.33192  dbSNP: rs2292879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001679542 SCV001904067 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776284 SCV002014221 benign Griscelli syndrome type 3 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001679542 SCV005246695 benign not provided criteria provided, single submitter not provided

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