ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)

gnomAD frequency: 0.98532  dbSNP: rs2721190
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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) RCV000121962 SCV000203398 benign not specified 2012-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520360 SCV001729433 benign Baller-Gerold syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520360 SCV002033522 benign Baller-Gerold syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795215 SCV002033523 benign Rapadilino syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795216 SCV002033524 benign Rothmund-Thomson syndrome type 2 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712078 SCV005270344 benign not provided criteria provided, single submitter not provided
ITMI RCV000121962 SCV000086169 not provided not specified 2013-09-19 no assertion provided reference population

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