ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1108-32C>T

gnomAD frequency: 0.74934  dbSNP: rs762673
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527485 SCV001738515 benign Metachromatic leukodystrophy 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527485 SCV001775365 benign Metachromatic leukodystrophy 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001597294 SCV001832013 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597294 SCV005277405 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001527485 SCV002081643 benign Metachromatic leukodystrophy 2019-08-26 no assertion criteria provided clinical testing

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