ClinVar Miner

Submissions for variant NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135621 SCV003811241 uncertain significance Paganini-Miozzo syndrome 2020-03-23 criteria provided, single submitter clinical testing

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