ClinVar Miner

Submissions for variant NM_144628.4(TBC1D20):c.71-210G>A

gnomAD frequency: 0.48070  dbSNP: rs6037661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544025 SCV001762990 benign Warburg micro syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615274 SCV001832760 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615274 SCV005315469 benign not provided criteria provided, single submitter not provided

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