ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile)

gnomAD frequency: 0.00033  dbSNP: rs138819584
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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 RCV002055360 SCV002459064 benign not provided 2022-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483220 SCV002799508 likely benign Kleefstra syndrome 2 2021-07-07 criteria provided, single submitter clinical testing
ITMI RCV000121464 SCV000085658 not provided not specified 2013-09-19 no assertion provided reference population

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