ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10433G>A (p.Ser3478Asn)

gnomAD frequency: 0.00011  dbSNP: rs748281405
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717972 SCV001943290 benign not provided 2020-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073350 SCV002409968 benign Kabuki syndrome 2022-08-30 criteria provided, single submitter clinical testing

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