ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.78G>A (p.Ser26=)

gnomAD frequency: 0.00001  dbSNP: rs534380202
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001461367 SCV001665267 likely benign Multiple sulfatase deficiency 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001461367 SCV002079175 likely benign Multiple sulfatase deficiency 2021-08-10 no assertion criteria provided clinical testing

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