ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.1015-6A>G

gnomAD frequency: 0.00001  dbSNP: rs368707139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119896 SCV002401982 likely benign Multiple sulfatase deficiency 2024-08-04 criteria provided, single submitter clinical testing

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