ClinVar Miner

Submissions for variant NM_024101.7(MLPH):c.987del (p.Lys330fs)

dbSNP: rs786205641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989487 SCV004806457 pathogenic Griscelli syndrome type 3 2024-03-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171507 SCV000221706 likely pathogenic not provided flagged submission research

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