ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.450T>A (p.Val150=) (rs886063884)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338481 SCV000479761 uncertain significance Galactosemia 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668399 SCV000792993 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000977076 SCV001124988 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing

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