ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1332G>A (p.Arg444=)

dbSNP: rs1588533740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Medical Genetics, Mumbai RCV000855750 SCV000965607 likely benign Kleefstra syndrome 1 2019-08-14 criteria provided, single submitter clinical testing The variant was incidentally detected in heterozygous state with coverage of 52x (32 wild type allele: 20 alternate allele) on clinical exome sequencing in an healthy individual with previous baby with ichthyosis.

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