ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn)

gnomAD frequency: 0.00029  dbSNP: rs368511164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468536 SCV002764550 uncertain significance Short stature-brachydactyly-obesity-global developmental delay syndrome 2022-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546855 SCV004266444 likely benign not provided 2024-09-09 criteria provided, single submitter clinical testing

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