ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.329C>T (p.Pro110Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004431894 SCV004916699 uncertain significance Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing The c.329C>T (p.P110L) alteration is located in exon 3 (coding exon 1) of the BMP4 gene. This alteration results from a C to T substitution at nucleotide position 329, causing the proline (P) at amino acid position 110 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003757 SCV005629347 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2024-05-30 criteria provided, single submitter clinical testing

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