ClinVar Miner

Submissions for variant NM_002936.6(RNASEH1):c.288C>T (p.Ser96=)

gnomAD frequency: 0.00287  dbSNP: rs146794938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899950 SCV001044244 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000899950 SCV001892948 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000899950 SCV004138525 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing RNASEH1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000899950 SCV005283816 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975717 SCV004794357 benign RNASEH1-related disorder 2019-08-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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