ClinVar Miner

Submissions for variant NM_000360.4(TH):c.645-74A>T

gnomAD frequency: 0.01330  dbSNP: rs73403741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555994 SCV001777496 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001555994 SCV005223153 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001832758 SCV002085344 benign Autosomal recessive DOPA responsive dystonia 2019-10-17 no assertion criteria provided clinical testing

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