ClinVar Miner

Submissions for variant NM_024101.7(MLPH):c.1221A>G (p.Glu407=)

gnomAD frequency: 0.44998  dbSNP: rs2271809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710480 SCV001936776 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776299 SCV002014223 benign Griscelli syndrome type 3 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001710480 SCV002333552 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001710480 SCV005246721 benign not provided criteria provided, single submitter not provided

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