ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1995C>T (p.Gly665=)

gnomAD frequency: 0.00003  dbSNP: rs370290857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259918 SCV000408805 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317373 SCV000408806 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859922 SCV002227609 likely benign not provided 2022-02-22 criteria provided, single submitter clinical testing

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