ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys)

gnomAD frequency: 0.00003  dbSNP: rs370620314
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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 RCV001854659 SCV002131150 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133140 SCV003810114 uncertain significance Kleefstra syndrome 2 2021-09-03 criteria provided, single submitter clinical testing
ITMI RCV000121530 SCV000085724 not provided not specified 2013-09-19 no assertion provided reference population

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