ClinVar Miner

Submissions for variant NC_000007.13:g.61995868A>G (rs483352872)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Endocrinology Clinic, Seth G.S. Medical College RCV000074399 SCV000106009 pathogenic Isolated growth hormone deficiency type 1B 2013-02-15 no assertion criteria provided case-control Converted during submission to Pathogenic.

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