ClinVar Miner

Submissions for variant NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)

gnomAD frequency: 0.00639  dbSNP: rs113277637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953000 SCV001099542 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989230 SCV001139465 likely benign Structural heart defects and renal anomalies syndrome 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000953000 SCV005212069 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925965 SCV004743600 benign TMEM260-related disorder 2019-12-09 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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