ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.981C>T (p.Asn327=) (rs777898632)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254201 SCV000318313 likely benign Cardiovascular phenotype 2013-01-22 criteria provided, single submitter clinical testing
Invitae RCV000868549 SCV001009890 likely benign Classic homocystinuria 2019-12-31 criteria provided, single submitter clinical testing

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