ClinVar Miner

Submissions for variant NM_012318.3(LETM1):c.326A>G (p.His109Arg)

gnomAD frequency: 0.01570  dbSNP: rs62623389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521786 SCV001731189 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506630 SCV002807093 benign 4p partial monosomy syndrome 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521786 SCV005299402 benign not provided criteria provided, single submitter not provided

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