ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1717C>T (p.Leu573=)

gnomAD frequency: 0.00174  dbSNP: rs145279594
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000304877 SCV000336172 likely benign not specified 2015-10-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293421 SCV000408817 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336606 SCV000408818 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888403 SCV001032036 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888403 SCV004143082 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing DYM: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000888403 SCV004564836 likely benign not provided 2023-10-14 criteria provided, single submitter clinical testing

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