ClinVar Miner

Submissions for variant NM_000821.7(GGCX):c.773G>A (p.Gly258Asp)

dbSNP: rs1692107154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280812 SCV001468151 likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 2020-06-17 no assertion criteria provided clinical testing

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