ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9968A>T (p.His3323Leu)

dbSNP: rs778241763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003257716 SCV003980294 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.9968A>T (p.H3323L) alteration is located in exon 43 (coding exon 43) of the KMT2C gene. This alteration results from a A to T substitution at nucleotide position 9968, causing the histidine (H) at amino acid position 3323 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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