ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.825G>A (p.Ser275=)

dbSNP: rs1722357550
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001280046 SCV001467193 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-08-13 no assertion criteria provided clinical testing

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