ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.561G>C (p.Val187=)

gnomAD frequency: 0.00480  dbSNP: rs147804585
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264582 SCV000340173 benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281507 SCV000364299 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338929 SCV000364300 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397454 SCV000364301 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285022 SCV000364302 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000338929 SCV001106001 benign Spondyloepiphyseal dysplasia with congenital joint dislocations 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV002288964 SCV002578470 likely benign not provided 2022-04-08 criteria provided, single submitter clinical testing

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